Table 3.

Polymorphisms in NIPBL Identified in Affected Individuals, Family Members, and/or Controls

Polymorphism	Located in Exon
230+61C→Aa,b	3
611+102A→Gc	6
2021A→G; N674Sa,b	10
2451C→T; D817Dc	10
3575−14A→Ga	14
3616A→G; I1206V	14
3855+52A→Ga,b	16
4088+53T→Cc	17
3586−59G→A	17
4239+53T→Cc	18
4239+152C→Gc	18
4240−48C→Tc	19
4321−96C→T	20
4321−35T→Cc	20
4560+77A→Ga	21
4560+108delTa	21
4561−9T→Ac	22
4561−106C→Tc	22
4634+24G→Ac	22
4773G→T; L1591Lc	23
4777−108delAa	24
4921−58G→Aa,b	25
5575−193T→Ca	30
5575−92G→C	30
5575−18G→Cc	30
5710−59A→Gc	31
5710−78G→Ac	31
5862+74delTTa,b	32
5863−12delATa	33
5863−30delATa,b	33
5863−52delTc	33
5874C→T; S1958Sa,b	33
5971A→G; N1994Sc	34
6109−54insA	35
6109−3T→Cc	35
6498−94T→Cc	38
6499−80A→Gc	39
6764−35C→Ga	40
6954+62A→Gc	40
6955−9delTa	41
7861+39G→A	45
8698−8701delACAA	47d

^aFound in patients, family members, and/or normal controls.

^bPreviously reported by Krantz et al. (2004).

^cFound in patients and family members.

^dIn the 3′ UTR.